ectodermal dysplasia and immune deficiency

Summary

DOID:0081077 - ectodermal dysplasia and immune deficiency

Disease Ontology Definition:An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

Synonyms: Anhidrotic ectodermal dysplasia with immune deficiency, Ectodermal dysplasia, hypohidrotic, with immune deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nfkbia, ikbkg

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): ectodermal dysplasia (is_a), primary immunodeficiency disease (is_a)